@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP364486.RADt7bH9CQQgwOk7_rsureb_uy9KkGF0SoSiVSXB2NO0c130_head { this: np:hasAssertion dgn-np:NP364486.RADt7bH9CQQgwOk7_rsureb_uy9KkGF0SoSiVSXB2NO0c130_assertion; np:hasProvenance dgn-np:NP364486.RADt7bH9CQQgwOk7_rsureb_uy9KkGF0SoSiVSXB2NO0c130_provenance; np:hasPublicationInfo dgn-np:NP364486.RADt7bH9CQQgwOk7_rsureb_uy9KkGF0SoSiVSXB2NO0c130_publicationInfo; a np:Nanopublication . dgn-np:NP364486.RADt7bH9CQQgwOk7_rsureb_uy9KkGF0SoSiVSXB2NO0c130_assertion a np:Assertion . dgn-np:NP364486.RADt7bH9CQQgwOk7_rsureb_uy9KkGF0SoSiVSXB2NO0c130_provenance a np:Provenance . dgn-np:NP364486.RADt7bH9CQQgwOk7_rsureb_uy9KkGF0SoSiVSXB2NO0c130_publicationInfo a np:PublicationInfo . } dgn-np:NP364486.RADt7bH9CQQgwOk7_rsureb_uy9KkGF0SoSiVSXB2NO0c130_assertion { miriam-gene:2395 a ncit:C16612 . lld:C0004134 a ncit:C7057 . dgn-gda:DGNce5e88a016edb3d841462126da843b1c sio:SIO_000628 miriam-gene:2395, lld:C0004134; a sio:SIO_001121 . } dgn-np:NP364486.RADt7bH9CQQgwOk7_rsureb_uy9KkGF0SoSiVSXB2NO0c130_provenance { dgn-np:NP364486.RADt7bH9CQQgwOk7_rsureb_uy9KkGF0SoSiVSXB2NO0c130_assertion dcterms:description "[The association between the frataxin gene mutation and mitochondrial myopathy in this case suggests that severe or cumulative insults to mitochondrial function may produce myopathic changes in some cases of Friedreich's ataxia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:12174969; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP364486.RADt7bH9CQQgwOk7_rsureb_uy9KkGF0SoSiVSXB2NO0c130_publicationInfo { this: dcterms:created "2016-05-13T12:44:30+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }